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Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.

Experimental dermatology - 1 Jul 2026

Schneider Holm, Hadj-Rabia Smail, Berking Carola, Weider Matthias, Steffann Julie, Rieker Ralf J, Gölz Lina, Peschel Nicolai

Abstract excerpt

The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further investigated the link between this gene and maldevelopment of tissues...

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Anodontia
Cleft Lip
Cleft Palate
Cysts
Ectodermal Dysplasia

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Interferon Regulatory Factors

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PMID: 42487474
DOI: 10.1111/exd.70331
PMCID: PMC13392586

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.PMID 42487474Read ↗

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